Disease ID | Disease name | Source of annotation with SNRNP200 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS268000 | RETINITIS PIGMENTOSA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 69 | PDE6A, MAK, FSCN2, DHDDS, RHO, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, PRCD, SNRNP200, IMPG2, PDE6B, IDH3B, RGR, TTC8, GUCA1B, CDHR1, PANK2, RDH12, BBS2, MERTK, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, PDE6G, ROM1, CYGB, ARL6, NRL, RPGR, PRPF4, RP2, IFT172, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, RPE65, PRPF6, FAM161A, RBP3, IFT140, PRPF8, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Spliceosome | hsa03040 | 5.73 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Gene Expression | R-HSA-74160 | 2.72 |
mRNA Splicing - Minor Pathway | R-HSA-72165 | 7.59 |
mRNA Splicing - Major Pathway | R-HSA-72163 | 6.15 |
Processing of Capped Intron-Containing Pre-mRNA | R-HSA-72203 | 6.1 |
mRNA Splicing | R-HSA-72172 | 6.15 |
GO term | GO ID | GO IC |
---|---|---|
ATPase activity | GO:0016887 | 3.65 |
ATP-dependent helicase activity | GO:0008026 | 5.12 |
purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
ATP binding | GO:0005524 | 2.43 |
RNA-dependent ATPase activity | GO:0008186 | 5.56 |
heterocyclic compound binding | GO:1901363 | 1.06 |
purine nucleoside binding | GO:0001883 | 2.22 |
nucleoside binding | GO:0001882 | 2.21 |
ATPase activity, coupled | GO:0042623 | 3.97 |
nucleotide binding | GO:0000166 | 1.96 |
nucleoside phosphate binding | GO:1901265 | 1.96 |
ribonucleoside binding | GO:0032549 | 2.22 |
purine nucleotide binding | GO:0017076 | 2.19 |
identical protein binding | GO:0042802 | 2.63 |
hydrolase activity | GO:0016787 | 1.9 |
poly(A) RNA binding | GO:0044822 | 2.69 |
nucleoside-triphosphatase activity | GO:0017111 | 3.09 |
ATP-dependent RNA helicase activity | GO:0004004 | 5.56 |
helicase activity | GO:0004386 | 4.69 |
small molecule binding | GO:0036094 | 1.89 |
catalytic activity | GO:0003824 | 1.05 |
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides | GO:0016818 | 3.03 |
adenyl nucleotide binding | GO:0030554 | 2.4 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
organic cyclic compound binding | GO:0097159 | 1.05 |
hydrolase activity, acting on acid anhydrides | GO:0016817 | 3.03 |
pyrophosphatase activity | GO:0016462 | 3.04 |
RNA helicase activity | GO:0003724 | 5.53 |
adenyl ribonucleotide binding | GO:0032559 | 2.41 |
RNA binding | GO:0003723 | 2.36 |
protein binding | GO:0005515 | 0.46 |
purine NTP-dependent helicase activity | GO:0070035 | 5.12 |
purine ribonucleotide binding | GO:0032555 | 2.2 |
purine ribonucleoside binding | GO:0032550 | 2.22 |
ribonucleotide binding | GO:0032553 | 2.19 |